Incidental Mutation 'R5212:Mtss2'
ID 403185
Institutional Source Beutler Lab
Gene Symbol Mtss2
Ensembl Gene ENSMUSG00000033763
Gene Name MTSS I-BAR domain containing 2
Synonyms Mtss1l, ABBA
MMRRC Submission 042786-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5212 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 111448108-111468032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111455850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 107 (I107V)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052457] [ENSMUST00000144041]
AlphaFold Q6P9S0
Predicted Effect probably benign
Transcript: ENSMUST00000052457
AA Change: I222V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000050211
Gene: ENSMUSG00000033763
AA Change: I222V

DomainStartEndE-ValueType
Pfam:IMD 15 236 8.1e-108 PFAM
low complexity region 252 274 N/A INTRINSIC
low complexity region 284 295 N/A INTRINSIC
low complexity region 312 330 N/A INTRINSIC
low complexity region 368 386 N/A INTRINSIC
low complexity region 429 442 N/A INTRINSIC
low complexity region 546 562 N/A INTRINSIC
low complexity region 668 690 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000141302
AA Change: I107V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116518
Gene: ENSMUSG00000033763
AA Change: I107V

DomainStartEndE-ValueType
Pfam:IMD 1 122 1e-56 PFAM
low complexity region 138 179 N/A INTRINSIC
low complexity region 202 213 N/A INTRINSIC
low complexity region 230 248 N/A INTRINSIC
low complexity region 286 304 N/A INTRINSIC
low complexity region 347 360 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141527
Predicted Effect probably benign
Transcript: ENSMUST00000144041
AA Change: I160V

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000115220
Gene: ENSMUSG00000033763
AA Change: I160V

DomainStartEndE-ValueType
Pfam:IMD 1 174 3.6e-72 PFAM
low complexity region 190 212 N/A INTRINSIC
low complexity region 222 233 N/A INTRINSIC
low complexity region 250 268 N/A INTRINSIC
low complexity region 306 324 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
low complexity region 484 500 N/A INTRINSIC
low complexity region 606 628 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149273
AA Change: I111V

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119495
Gene: ENSMUSG00000033763
AA Change: I111V

DomainStartEndE-ValueType
Pfam:IMD 1 126 2.5e-59 PFAM
low complexity region 142 183 N/A INTRINSIC
low complexity region 206 217 N/A INTRINSIC
low complexity region 239 249 N/A INTRINSIC
Meta Mutation Damage Score 0.0773 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 137,771,611 (GRCm39) S267T possibly damaging Het
Abca9 T C 11: 109,998,052 (GRCm39) D1514G probably benign Het
Adamtsl4 T A 3: 95,584,980 (GRCm39) D896V probably damaging Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Arglu1 T A 8: 8,733,843 (GRCm39) R158W probably damaging Het
Arhgef7 A G 8: 11,778,388 (GRCm39) E46G probably benign Het
Atg2b A G 12: 105,613,055 (GRCm39) V1172A probably benign Het
Bhlhe23 T A 2: 180,417,886 (GRCm39) K217N probably damaging Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Ccp110 C T 7: 118,328,919 (GRCm39) A845V probably damaging Het
Cd63 A G 10: 128,747,722 (GRCm39) Y105C probably damaging Het
Cdk11b T C 4: 155,723,072 (GRCm39) probably null Het
Clip1 T A 5: 123,768,744 (GRCm39) R618S probably benign Het
Crybg1 A T 10: 43,843,739 (GRCm39) F1731L possibly damaging Het
Dock1 A C 7: 134,390,923 (GRCm39) K728Q possibly damaging Het
Emc2 A G 15: 43,374,240 (GRCm39) E180G probably damaging Het
F13b A T 1: 139,440,725 (GRCm39) I394F probably benign Het
Fnta A G 8: 26,499,735 (GRCm39) I155T probably benign Het
Fshr T A 17: 89,293,685 (GRCm39) E331V probably benign Het
Fshr T A 17: 89,293,684 (GRCm39) E331D probably benign Het
Gas2l1 A T 11: 5,011,108 (GRCm39) C574S probably benign Het
Ggnbp2 T A 11: 84,744,847 (GRCm39) probably benign Het
Gm3371 A C 14: 44,641,111 (GRCm39) probably benign Het
Gm7489 T A 15: 53,749,016 (GRCm39) probably benign Het
Hand1 A C 11: 57,722,273 (GRCm39) F114V probably damaging Het
Itga4 A C 2: 79,110,939 (GRCm39) H259P probably damaging Het
Jakmip1 A T 5: 37,262,245 (GRCm39) H183L probably benign Het
Kifbp A T 10: 62,398,908 (GRCm39) probably benign Het
Krt8 G T 15: 101,906,402 (GRCm39) A369D possibly damaging Het
Krt82 T C 15: 101,453,484 (GRCm39) S301G probably damaging Het
Lig3 A G 11: 82,678,504 (GRCm39) T248A probably benign Het
Madcam1 C G 10: 79,504,179 (GRCm39) T255S probably benign Het
Med20 T C 17: 47,929,775 (GRCm39) Y71H probably benign Het
Nans T C 4: 46,502,547 (GRCm39) F328S possibly damaging Het
Ncbp3 A G 11: 72,944,373 (GRCm39) probably benign Het
Nek8 T C 11: 78,063,342 (GRCm39) M1V probably null Het
Nufip1 A T 14: 76,370,538 (GRCm39) N413I possibly damaging Het
Pbx3 T C 2: 34,178,793 (GRCm39) probably benign Het
Plppr3 C T 10: 79,698,279 (GRCm39) G419R probably benign Het
Rfx1 G T 8: 84,793,221 (GRCm39) probably benign Het
Rnpepl1 C T 1: 92,839,045 (GRCm39) A68V probably benign Het
Rsbn1l A T 5: 21,101,212 (GRCm39) M776K probably benign Het
Setd7 A T 3: 51,450,238 (GRCm39) Y63N probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Snap47 T C 11: 59,319,178 (GRCm39) E320G probably damaging Het
Spaca6 C A 17: 18,058,656 (GRCm39) P68Q probably benign Het
Tdrd3 G C 14: 87,743,651 (GRCm39) R527P probably damaging Het
Tmprss2 G T 16: 97,377,492 (GRCm39) Q202K probably benign Het
Tmprss6 A G 15: 78,330,460 (GRCm39) V69A probably damaging Het
Trav6-1 A T 14: 52,876,161 (GRCm39) Q27L probably benign Het
Ttn C T 2: 76,731,957 (GRCm39) probably benign Het
Ttn T C 2: 76,619,945 (GRCm39) I15908V probably benign Het
Ttn T A 2: 76,628,019 (GRCm39) D12931V probably damaging Het
Ush2a T A 1: 188,176,902 (GRCm39) probably null Het
Wls A G 3: 159,578,645 (GRCm39) N69S probably benign Het
Other mutations in Mtss2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02124:Mtss2 APN 8 111,464,256 (GRCm39) missense probably damaging 1.00
R0620:Mtss2 UTSW 8 111,464,580 (GRCm39) missense probably damaging 0.98
R0685:Mtss2 UTSW 8 111,454,029 (GRCm39) critical splice donor site probably null
R2082:Mtss2 UTSW 8 111,452,889 (GRCm39) critical splice donor site probably null
R2149:Mtss2 UTSW 8 111,453,015 (GRCm39) missense possibly damaging 0.58
R2266:Mtss2 UTSW 8 111,455,362 (GRCm39) missense possibly damaging 0.80
R2267:Mtss2 UTSW 8 111,455,362 (GRCm39) missense possibly damaging 0.80
R2269:Mtss2 UTSW 8 111,455,362 (GRCm39) missense possibly damaging 0.80
R2378:Mtss2 UTSW 8 111,464,981 (GRCm39) missense probably damaging 1.00
R3756:Mtss2 UTSW 8 111,456,692 (GRCm39) missense probably damaging 1.00
R4005:Mtss2 UTSW 8 111,465,673 (GRCm39) frame shift probably null
R4552:Mtss2 UTSW 8 111,465,137 (GRCm39) missense probably damaging 1.00
R4553:Mtss2 UTSW 8 111,465,137 (GRCm39) missense probably damaging 1.00
R4849:Mtss2 UTSW 8 111,452,875 (GRCm39) missense possibly damaging 0.92
R6294:Mtss2 UTSW 8 111,453,960 (GRCm39) missense possibly damaging 0.89
R6336:Mtss2 UTSW 8 111,458,796 (GRCm39) missense probably damaging 1.00
R7090:Mtss2 UTSW 8 111,456,656 (GRCm39) missense probably damaging 1.00
R7580:Mtss2 UTSW 8 111,464,268 (GRCm39) missense possibly damaging 0.95
R7581:Mtss2 UTSW 8 111,452,845 (GRCm39) missense possibly damaging 0.92
R7810:Mtss2 UTSW 8 111,452,833 (GRCm39) missense probably damaging 0.99
R8497:Mtss2 UTSW 8 111,465,222 (GRCm39) missense possibly damaging 0.95
R9033:Mtss2 UTSW 8 111,465,651 (GRCm39) missense probably damaging 1.00
R9596:Mtss2 UTSW 8 111,458,689 (GRCm39) missense
R9640:Mtss2 UTSW 8 111,464,575 (GRCm39) missense probably benign 0.00
R9796:Mtss2 UTSW 8 111,456,753 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- GTTACCTTGATTGCACTGGC -3'
(R):5'- TCCCACAGGGCTTTTGGATAC -3'

Sequencing Primer
(F):5'- TTGATTGCACTGGCCCAGC -3'
(R):5'- CCACAGGGCTTTTGGATACTATCTG -3'
Posted On 2016-07-22